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Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Stalke, Amelie; Behrendt, Annika; Hennig, Finja; Gohlke, Holger; Buhl, Nicole; Reinkens, Thea; Baumann, Ulrich; Schlegelberger, Brigitte; Illig, Thomas; Pfister, Eva-Doreen; Skawran, Britta.
Afiliación
  • Stalke A; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Behrendt A; Department of Pediatric Gastroenterology and Hepatology, Division of Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Hennig F; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Gohlke H; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Buhl N; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Reinkens T; Institute of Bio- and Geosciences (IBG-4: Bioinformatics), Forschungszentrum Jülich GmbH, Jülich, Germany.
  • Baumann U; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Schlegelberger B; Department of Pediatric Gastroenterology and Hepatology, Division of Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Illig T; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Pfister ED; Department of Pediatric Gastroenterology and Hepatology, Division of Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Skawran B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Clin Genet ; 104(2): 174-185, 2023 08.
Article en En | MEDLINE | ID: mdl-37157876
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ATPasas Transportadoras de Cobre / Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: ATPasas Transportadoras de Cobre / Degeneración Hepatolenticular Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Alemania